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Disease Markers
Volume 27 (2009), Issue 5, Pages 217-223

Genetic Factors Associated with Rheumatoid Arthritis and Systemic Vasculitis: Evaluation of a Panel of Polymorphisms

Elisa Menegatti,1 Annalisa Davit,1 Simona Francica,1 Daniela Berardi,1 Daniela Rossi,2 Simone Baldovino,1,3 Pier Angelo Tovo,4 Luigi M. Sena,1 and Dario Roccatello1,3

1Department of Experimental Medicine and Oncology, Clinical Pathology Section, University of Turin, Turin, Italy
2Centro di Ricerche di Immunopatologia e Documentazione su Malattie Rare (CMID), Dipartimento di Malattie Rare, Immunologiche, Ematologiche ed Immunoematologiche, ASL-TO2 NORD, Torino, Italy
3Centre of Research of Immunopathology and Rare Diseases, University of Turin, Turin, Italy
4Department of Pediatrics, University of Turin, Turin, Italy

Received 18 December 2009; Accepted 18 December 2009

Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Immune and inflammatory response activation is a common feature of connective tissue diseases and systemic vasculitis. The aim of our study was to evaluate the possible involvement of TNFα c.-308A > G, IL-10 c.-1082A > G, uteroglobin c.38A > G, TGFβ 1 c.869C > T and NFκB2 c.-1837T > C gene polymorphisms in susceptibility to connective tissue diseases. Our study cohort included 68 unrelated patients affected by rheumatoid arthritis (RA) (37 patients) and ANCA-positive [micropolyangiitis (mPA) 17 patients] or ANCA-negative systemic vasculitis [including 8 patients with Henoch-Schönlein purpura (HSP) and 6 patients with mixed cryoglobulinaemia (MC)] as well as 98 control subjects. Allele frequency analysis of uteroglobin c.38G > A polymorphism showed a significant increase in the c.38A allele in patients (p= 0.002). Genotype frequency analysis of uteroglobin and NF-κB2 gene polymorphisms in patients showed an increase in c.38GA and c.38AA genotypes in the uteroglobin gene (p=0.02) coupled with an increase in homozygous c.-1837CC in the NF-κB2 gene (p=0.02). Our data suggest that genetic variation in UG and NF-κB2 pathways could have effects in connective tissue disease susceptibility.